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classic maple syrup urine disease

Disease Summary
Associated Targets (5)
Tbio

4

Tchem

1


Mondo Description Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.
Mondo Term and Equivalent IDs
MONDO:0017051:  classic maple syrup urine disease
Orphanet:268145: